An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive chorioretinal degeneration caused by deficiency of the mitochondrial matrix enzyme, ornithine-delta-aminotransferase (OAT). To study the molecular basis of the mutations causing GA, we cloned and sequenced the human OAT cDNA and...

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Autores principales: Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Formato: Artigo
Lenguaje:Inglês
Publicado: 1988
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC329615/
https://ncbi.nlm.nih.gov/pubmed/3339136
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